Table 1.
Baseline demographics and sample characteristics of cognitively intact DIAD mutation carriers and non-carriers
| DIAD mutation non-carriers (n = 102) | DIAD mutation carriers (n = 119) | p value | |
|---|---|---|---|
| Age, years, mean (SD) | 38.99 (10.75) | 36.45 (9.24) | 0.060 |
| Male, n (%) | 44 (43.13) | 58 (48.73) | 0.405 |
| Education, years, mean (SD) | 15.15 (2.88) | 14.92 (3.05) | 0.566 |
| APOE carrier status | 0.600 | ||
| APOE ε2/ε2, ε2/ε3, ε3/ε3 carriers, n (%) | 72 (70.06) | 83 (69.7) | |
| APOE ε2/ε4 carriers, n (%) | 6 (5.88) | 4 (3.36) | |
| APOE ε3/ε4, ε4/ε4 carriers, n (%) | 24 (23.52) | 32 (26.89) | |
| Parental age of onset, years, mean (SD) | 46.85 (6.37) | 48.32 (7.25) | 0.179 |
| EYO, years, mean (SD) | −9.40 (11.92) | −11.51 (9.40) | 0.078 |
| DIAD mutation type | 0.863 | ||
| APP, n (%) | 20 (19.60) | 20 (16.80) | |
| PS1, n (%) | 69 (67.65) | 83 (69.75) | |
| PS2, n (%) | 13 (12.75) | 16 (13.45) | |
| MMSE, mean, (SD) | 29.39 (0.83) | 29.08 (1.19) | 0.052 |
| CSF Aβ1–42, mean, pg/ml (SD)^ | 461.14 (138.27) | 363.66 (166.72) | < 0.001 |
| CSF p-tau181, mean, pg/ml (SD)† | 29.64 (11.96) | 53.44 (30.65) | < 0.001 |
| CSF t-tau, mean, pg/ml (SD)† | 54.86 (25.47) | 92.06 (62.16) | < 0.001 |
P values were assessed using family-level random-effects models for the continuous variables and categorical variables, taking into account the analysis of multiple family members within the families. CSF cerebrospinal fluid, EYO estimated years to symptom onset, MMSE mini-mental state examination
^ CSF Aβ1–42 data for the baseline visit were not available for 19 mutation carriers and 23 non-carriers
† CSF p-tau181 & CSF t-tau data for the baseline visit were not available for 18 mutation carriers and 21 non-carriers